G6PC Gene Von-Gierke disease NGS Genetic Test
Short Name: G6PC NGS Genetic Test
Also known as: Glycogen Storage Disease Type Ia, Von Gierke Disease, GSD Type I
G6PC Gene Von-Gierke disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose Von-Gierke Disease definitively by identifying mutations in the G6PC gene using NGS technology. This test aids in early intervention, carrier identification, genetic counseling, and family planning for at-risk individuals.
- Test Code
- 2273
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Von-Gierke disease. No fasting is required.
Method: Venipuncture
Laboratory Analysis
A blood sample is collected via venipuncture from the arm, or a saliva sample is provided in a sterile container. For FTA card method, a drop of blood is applied.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball to stop bleeding. Resume normal activities. Store the sample as instructed.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Von-Gierke Disease definitively by identifying mutations in the G6PC gene using NGS technology. This test aids in early intervention, carrier identification, genetic counseling, and family planning for at-risk individuals.
How to Prepare
- No fasting required prior to sample collection
- Wear loose clothing to allow easy access for blood draw
- Inform the healthcare provider of any medications or recent treatments
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Von-Gierke Disease is crucial for family planning and early management to prevent complications like hypoglycemia and organ damage."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled or contaminated sample
Understanding Your Results
Positive
Pathogenic mutation detected in the G6PC gene, indicative of Von-Gierke Disease. Consult a geneticist for management and genetic counseling.
Negative
No pathogenic variant detected. Symptoms may be due to other metabolic disorders. Consider additional testing if clinically indicated.
Variant of Uncertain Significance (VUS)
A genetic variant found with unknown clinical significance. Further testing, family studies, or functional assays may be required for clarification.
If you or your child experience symptoms like persistent hypoglycemia, enlarged liver, growth delays, or have a family history of Von-Gierke Disease, consult a healthcare provider promptly for evaluation and potential genetic testing.
Limitations
- ⚠May not detect all possible mutations in the G6PC gene
- ⚠Requires interpretation by a qualified geneticist or genetic counselor
- ⚠Cannot rule out other genetic causes of similar symptoms
Risks & Considerations
- ●Minimal physical risks from blood draw, such as bruising or discomfort
- ●Potential psychological impact from test results, necessitating genetic counseling
Interfering Factors
- ●Poor DNA quality from the sample
- ●Contaminated or hemolyzed blood sample
- ●Recent blood transfusion may affect results
Compare With Similar Tests
| Test | G6PC Gene Von-Gierke disease NGS Genetic Test | GYS2 Gene Test for Glycogen Storage Disease Type 0 | GAA Gene Test for Pompe Disease |
|---|---|---|---|
| Comparison | G6PC Gene Von-Gierke disease NGS Genetic Test |
Frequently Asked Questions
What is Von-Gierke Disease?
What does the G6PC gene do?
How is the NGS genetic test performed?
Who should get this test?
What are the symptoms of Von-Gierke Disease?
Is the test painful?
How long does it take to get results?
What does a positive result mean?
Can carriers of the disease be identified?
Is genetic counseling provided with the test?
What is the cost of the test?
Is home sample collection available?
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